Canonical Allele Identifier: CA366742744

Gene: PMS2

Linked Data

• ClinVar Variation Id: 822225
• ClinVar RCV Id: RCV001017405 ; RCV001873294 ; RCV003461361
• dbSNP Id: rs1583334040
• gnomAD v4: 7-5989814-A-G
• MyVariant Identifiers: chr7:g.6029445A>G (hg19) ; chr7:g.5989814A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989814A>G , CM000669.2:g.5989814A>G	GRCh38
NC_000007.13:g.6029445A>G , CM000669.1:g.6029445A>G	GRCh37
NC_000007.12:g.5995971A>G	NCBI36
NG_008466.1:g.24293T>C , LRG_161:g.24293T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*526T>C	ENSP00000514615.2:n.*526T>C
ENST00000699840.2:c.1127T>C	ENSP00000514638.2:p.Leu376Pro
ENST00000699930.2:c.1022T>C	ENSP00000514695.2:p.Leu341Pro
ENST00000406569.8:c.1130T>C	ENSP00000514464.1:p.Leu377Pro
ENST00000644110.2:c.*724T>C	ENSP00000496392.2:n.*724T>C
ENST00000699752.1:c.988+2159T>C	ENSP00000514561.1:n.988+2159T>C
ENST00000699753.1:c.*551T>C	ENSP00000514562.1:n.*551T>C
ENST00000699754.1:c.932T>C	ENSP00000514563.1:p.Leu311Pro
ENST00000699755.1:c.*529T>C	ENSP00000514564.1:n.*529T>C
ENST00000699756.1:c.*717T>C	ENSP00000514565.1:n.*717T>C
ENST00000699757.1:c.*387T>C	ENSP00000514566.1:n.*387T>C
ENST00000699758.1:c.*387T>C	ENSP00000514567.1:n.*387T>C
ENST00000699759.1:n.1984T>C
ENST00000699760.1:c.812T>C	ENSP00000514568.1:p.Leu271Pro
ENST00000699761.1:c.725T>C	ENSP00000514569.1:p.Leu242Pro
ENST00000699762.1:c.557T>C	ENSP00000514570.1:p.Leu186Pro
ENST00000699763.1:c.*220T>C	ENSP00000514571.1:n.*220T>C
ENST00000699764.1:c.1130T>C	ENSP00000514572.1:p.Leu377Pro
ENST00000699765.1:c.*226T>C	ENSP00000514573.1:n.*226T>C
ENST00000699766.1:c.1130T>C	ENSP00000514574.1:p.Leu377Pro
ENST00000699767.1:c.1130T>C	ENSP00000514575.1:p.Leu377Pro
ENST00000699768.1:c.1130T>C	ENSP00000514576.1:p.Leu377Pro
ENST00000699811.1:c.725T>C	ENSP00000514614.1:p.Leu242Pro
ENST00000699813.1:n.1243T>C
ENST00000699814.1:c.753T>C
ENST00000699815.1:c.*622T>C	ENSP00000514616.1:n.*622T>C
ENST00000699816.1:c.725T>C	ENSP00000514617.1:p.Leu242Pro
ENST00000699817.1:c.*724T>C	ENSP00000514618.1:n.*724T>C
ENST00000699818.1:c.725T>C	ENSP00000514619.1:p.Leu242Pro
ENST00000699819.1:c.*287T>C	ENSP00000514620.1:n.*287T>C
ENST00000699820.1:c.1130T>C	ENSP00000514621.1:p.Leu377Pro
ENST00000699821.1:c.725T>C	ENSP00000514622.1:p.Leu242Pro
ENST00000699822.1:c.*582T>C	ENSP00000514623.1:n.*582T>C
ENST00000699823.1:c.725T>C	ENSP00000514624.1:p.Leu242Pro
ENST00000699824.1:c.*633T>C	ENSP00000514625.1:n.*633T>C
ENST00000699825.1:c.583+2159T>C	ENSP00000514626.1:n.583+2159T>C
ENST00000699826.1:c.*529T>C	ENSP00000514627.1:n.*529T>C
ENST00000699827.1:c.962T>C	ENSP00000514628.1:p.Leu321Pro
ENST00000699828.1:c.*220T>C	ENSP00000514629.1:n.*220T>C
ENST00000699829.1:c.*631T>C	ENSP00000514630.1:n.*631T>C
ENST00000699830.1:c.*529T>C	ENSP00000514631.1:n.*529T>C
ENST00000699833.1:n.2902T>C
ENST00000699837.1:c.725T>C	ENSP00000514635.1:p.Leu242Pro
ENST00000699838.1:c.*1030T>C	ENSP00000514636.1:n.*1030T>C
ENST00000699839.1:c.1316T>C	ENSP00000514637.1:p.Leu439Pro
ENST00000699840.1:c.1127T>C	ENSP00000514638.1:p.Leu376Pro
ENST00000699916.1:c.*387T>C	ENSP00000514684.1:n.*387T>C
ENST00000699917.1:c.*579T>C	ENSP00000514685.1:n.*579T>C
ENST00000699918.1:c.*631T>C	ENSP00000514686.1:n.*631T>C
ENST00000699919.1:c.*717T>C	ENSP00000514687.1:n.*717T>C
ENST00000699920.1:c.*766T>C	ENSP00000514688.1:n.*766T>C
ENST00000699928.1:c.988+2159T>C	ENSP00000514693.1:n.988+2159T>C
ENST00000699929.1:c.*431T>C	ENSP00000514694.1:n.*431T>C
ENST00000699930.1:c.1022T>C	ENSP00000514695.1:p.Leu341Pro
ENST00000699931.1:n.2558T>C
ENST00000699932.1:c.*348T>C	ENSP00000514696.1:n.*348T>C
ENST00000699933.1:n.1110T>C
ENST00000699951.1:c.*226T>C	ENSP00000514706.1:n.*226T>C
ENST00000699952.1:c.803+7512T>C	ENSP00000514707.1:n.803+7512T>C
ENST00000699953.1:c.*237T>C	ENSP00000514708.1:n.*237T>C
ENST00000699954.1:c.*431T>C	ENSP00000514709.1:n.*431T>C
ENST00000265849.12:c.1130T>C MANE Select	ENSP00000265849.7:p.Leu377Pro
ENST00000642292.1:c.725T>C	ENSP00000495524.1:p.Leu242Pro
ENST00000642456.1:c.725T>C	ENSP00000493814.1:p.Leu242Pro
ENST00000643595.1:c.*529T>C	ENSP00000494497.1:n.*529T>C
ENST00000644110.1:c.812T>C	ENSP00000496392.1:p.Leu271Pro
ENST00000265849.11:c.1130T>C	ENSP00000265849.7:p.Leu377Pro
ENST00000382321.5:c.804-6823T>C	ENSP00000371758.4:n.804-6823T>C
ENST00000406569.7:n.1130T>C
ENST00000441476.6:c.812T>C	ENSP00000392843.2:p.Leu271Pro
ENST00000469652.1:n.63-6909T>C
NM_000535.5:c.1130T>C , LRG_161t1:c.1130T>C	NP_000526.1:p.Leu377Pro
NR_003085.2:n.1212T>C
XM_006715742.2:c.1124T>C	XP_006715805.1:p.Leu375Pro
XM_006715744.2:c.197T>C	XP_006715807.1:p.Leu66Pro
XM_011515427.1:c.1175T>C	XP_011513729.1:p.Leu392Pro
XM_011515428.1:c.1033+2159T>C	XP_011513730.1:n.1033+2159T>C
XM_011515429.1:c.812T>C	XP_011513731.1:p.Leu271Pro
XM_011515430.1:c.812T>C	XP_011513732.1:p.Leu271Pro
NM_000535.6:c.1130T>C	NP_000526.2:p.Leu377Pro
NM_001322003.1:c.725T>C	NP_001308932.1:p.Leu242Pro
NM_001322004.1:c.725T>C	NP_001308933.1:p.Leu242Pro
NM_001322005.1:c.725T>C	NP_001308934.1:p.Leu242Pro
NM_001322006.1:c.988+2159T>C	NP_001308935.1:n.988+2159T>C
NM_001322007.1:c.812T>C	NP_001308936.1:p.Leu271Pro
NM_001322008.1:c.812T>C	NP_001308937.1:p.Leu271Pro
NM_001322009.1:c.725T>C	NP_001308938.1:p.Leu242Pro
NM_001322010.1:c.583+2159T>C	NP_001308939.1:n.583+2159T>C
NM_001322011.1:c.197T>C	NP_001308940.1:p.Leu66Pro
NM_001322012.1:c.197T>C	NP_001308941.1:p.Leu66Pro
NM_001322013.1:c.557T>C	NP_001308942.1:p.Leu186Pro
NM_001322014.1:c.1130T>C	NP_001308943.1:p.Leu377Pro
NM_001322015.1:c.821T>C	NP_001308944.1:p.Leu274Pro
NR_136154.1:n.1217T>C
XM_006715744.4:c.197T>C	XP_006715807.1:p.Leu66Pro
XM_017012342.2:c.197T>C	XP_016867831.1:p.Leu66Pro
XM_024446800.1:c.583+2159T>C	XP_024302568.1:n.583+2159T>C
NM_000535.7:c.1130T>C MANE Select	NP_000526.2:p.Leu377Pro
NM_001322003.2:c.725T>C	NP_001308932.1:p.Leu242Pro
NM_001322004.2:c.725T>C	NP_001308933.1:p.Leu242Pro
NM_001322005.2:c.725T>C	NP_001308934.1:p.Leu242Pro
NM_001322006.2:c.988+2159T>C	NP_001308935.1:n.988+2159T>C
NM_001322008.2:c.812T>C	NP_001308937.1:p.Leu271Pro
NM_001322009.2:c.725T>C	NP_001308938.1:p.Leu242Pro
NM_001322010.2:c.583+2159T>C	NP_001308939.1:n.583+2159T>C
NM_001322011.2:c.197T>C	NP_001308940.1:p.Leu66Pro
NM_001322012.2:c.197T>C	NP_001308941.1:p.Leu66Pro
NM_001322013.2:c.557T>C	NP_001308942.1:p.Leu186Pro
NM_001322014.2:c.1130T>C	NP_001308943.1:p.Leu377Pro
NM_001322015.2:c.821T>C	NP_001308944.1:p.Leu274Pro
NM_001322007.2:c.812T>C	NP_001308936.1:p.Leu271Pro